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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Setx and hereditary spastic paraplegia in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SETX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 448 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 4 papers in RGD have been used to annotate Setx
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
  • Original References(s): PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 PMID:19569000 PMID:19696032 PMID:20981092 PMID:21190393 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23881933 PMID:23941260 PMID:25174650 PMID:25382069 PMID:25741868 PMID:26467025 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:31957062 PMID:32253937 PMID:9536098


    • An association has been curated linking Setx and hereditary spastic paraplegia in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SETX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 448 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 4 papers in RGD have been used to annotate Setx
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia
  • Original References(s): PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 PMID:19569000 PMID:19696032 PMID:20981092 PMID:21190393 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23881933 PMID:23941260 PMID:25174650 PMID:25382069 PMID:25741868 PMID:26467025 PMID:27013921 PMID:27165006 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29650794 PMID:31957062 PMID:32253937 PMID:32397312 PMID:33770234 PMID:9536098


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